Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7203560
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2013 2017
dbSNP: rs7203560
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 2 2013 2017
dbSNP: rs7203560
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.710 1.000 1 2013 2013
dbSNP: rs117747069
rs117747069
NPRL3
16 120077 intron variant G/C snv 2.5E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs117747069
rs117747069
NPRL3
16 120077 intron variant G/C snv 2.5E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2016
dbSNP: rs7203560
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 2 2013 2019
dbSNP: rs11248850
rs11248850
NPRL3
16 113599 intron variant G/A snv 0.38
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs117747069
rs117747069
NPRL3
16 120077 intron variant G/C snv 2.5E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs117747069
rs117747069
NPRL3
16 120077 intron variant G/C snv 2.5E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs183350
rs183350
NPRL3
0.925 0.040 16 111939 intron variant G/A snv 0.81
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
dbSNP: rs183350
rs183350
NPRL3
0.925 0.040 16 111939 intron variant G/A snv 0.81
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2238368
rs2238368
NPRL3
16 120329 intron variant C/T snv 0.36
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs2238368
rs2238368
NPRL3
16 120329 intron variant C/T snv 0.36
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2238368
rs2238368
NPRL3
16 120329 intron variant C/T snv 0.36
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs2239296
rs2239296
NPRL3
16 89369 non coding transcript exon variant G/A;C snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs545105162
rs545105162
NPRL3
16 98445 intron variant G/A snv 5.4E-04
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs570013781
rs570013781
NPRL3
16 99541 intron variant G/A snv 2.1E-03
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2015 2015
dbSNP: rs570013781
rs570013781
NPRL3
16 99541 intron variant G/A snv 2.1E-03
CUI: C1281911
Disease: Hemoglobin A measurement
Hemoglobin A measurement 		0.700 1.000 1 2015 2015
dbSNP: rs60992881
rs60992881
NPRL3
16 107595 intron variant AAAAAAAAA/-;A;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAAAAA delins 0.38
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs60992881
rs60992881
NPRL3
16 107595 intron variant AAAAAAAAA/-;A;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAAAAA delins 0.38
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs6600233
rs6600233
NPRL3
16 93505 intron variant C/G;T snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs6600233
rs6600233
NPRL3
16 93505 intron variant C/G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs7203560
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs7203560
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2013 2013
dbSNP: rs8055187
rs8055187
NPRL3
16 108326 intron variant A/T snv 0.37
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019